Emily Rose Holzinger

The paper constructs a multi-ancestry single-cell eQTL map for SLE, identifying colocalized eQTLs with GWAS loci and highlighting cell-type-specific regulatory mechanisms.

VIDRA models genetic dose-response relationships to predict drug mechanisms, therapeutic potential, and adverse events using phenotypically associated variants.

This study uses deep mutational scanning to analyze TYK2 variants and their impact on function and drug response, identifying novel therapeutic targets and degradation strategies.

The paper develops a proteomic polygenic score to predict IL-18 levels and IBD risk, identifying ~30% of IBD patients as IL-18 High.

This study identifies CK2 as a regulator of CARD9 protein stability, showing CK2 inhibition leads to CARD9 depletion and demonstrating therapeutic potential in vivo.

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

This study shows that plasma protein quantitative trait loci (pQTL) support therapeutic hypotheses more effectively than other genetic evidence, increasing the likelihood of drug development success.

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

This study uses proteome-wide Mendelian randomization to identify 221 candidate causal proteins and 16 biomarkers for cardiovascular diseases, distinguishing between direct causes and consequences of CVD.